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106221001: Genetic finding (finding)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
300018016 Genetic finding en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
300019012 Genetic observations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
579053017 Genetic finding (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4740851000241114 constatation concernant un statut génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

456 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic finding Is a Genetic, molecular AND/OR cellular finding false Inferred relationship Some
Genetic finding Interprets Laboratory test false Inferred relationship Some
Genetic finding Finding method (attribute) Procedure false Inferred relationship Some
Genetic finding Is a Evaluation finding true Inferred relationship Some
Genetic finding Interprets Genetic test (procedure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
CYP2C9 intermediate metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 9 normal metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Solute carrier organic anion transporter family member 1B1 poor function (finding) Is a True Genetic finding Inferred relationship Some
SLCO1B1 decreased function Is a True Genetic finding Inferred relationship Some
SLCO1B1 normal function Is a True Genetic finding Inferred relationship Some
Solute carrier organic anion transporter family member 1B1 increased function (finding) Is a True Genetic finding Inferred relationship Some
CYP2B6 poor metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily B member 6 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily B member 6 normal metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 19 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Some
CYP2C19 intermediate metabolizer Is a True Genetic finding Inferred relationship Some
CYP2C19 normal metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 19 rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 19 ultra-rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 normal metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 extensive metabolizer Is a False Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily B member 6 rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Some
NUDT15 normal metabolizer Is a True Genetic finding Inferred relationship Some
Nudix hydrolase 15 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Nudix hydrolase 15 possible intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Nudix hydrolase 15 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Some
NUDT15 deficiency Is a True Genetic finding Inferred relationship Some
Vitamin K epoxide reductase complex 1 low normal metaboliser Is a True Genetic finding Inferred relationship Some
Vitamin K epoxide reductase complex 1 rapid metaboliser Is a True Genetic finding Inferred relationship Some
Vitamin K epoxide reductase complex 1 poor metabolizer Is a True Genetic finding Inferred relationship Some
Vitamin K epoxide reductase complex 1 intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Vitamin K epoxide reductase complex 1 ultra-rapid metabolizer Is a True Genetic finding Inferred relationship Some
Vitamin K epoxide reductase complex 1 high intermediate metabolizer Is a True Genetic finding Inferred relationship Some
Vitamin K epoxide reductase complex 1 normal metaboliser Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 9 rapid metaboliser Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 9 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 9 low normal metaboliser Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 19 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily C member 19 low normal metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 1 subfamily A member 2 poor metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 1 subfamily A member 2 intermediate metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 1 subfamily A member 2 high intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 1 subfamily A member 2 low normal metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 1 subfamily A member 2 rapid metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 1 subfamily A member 2 normal metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 4 normal metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 4 rapid metaboliser Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 4 low normal metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 low normal metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 high intermediate metaboliser Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 4 ultra-rapid metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 rapid metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 4 poor metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 5 ultra-rapid metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 4 intermediate metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 3 subfamily A member 4 high intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 rapid metabolizer Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 low normal metabolizer (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 high intermediate metabolizer (finding) Is a True Genetic finding Inferred relationship Some
N-acetyltransferase 2 slow acetylator (finding) Is a True Genetic finding Inferred relationship Some
Cytochrome P450 family 4 subfamily F member 2 poor metabolizer Is a True Genetic finding Inferred relationship Some
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation Is a True Genetic finding Inferred relationship Some
Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) Is a True Genetic finding Inferred relationship Some
Post-transcriptional genetic ribonucleic acid processing (finding) Is a True Genetic finding Inferred relationship Some
Human leukocyte antigen B27 not detected (finding) Is a True Genetic finding Inferred relationship Some
Triplicated alpha globin gene Is a True Genetic finding Inferred relationship Some
ATP binding cassette subfamily G member 2 normal function (finding) Is a True Genetic finding Inferred relationship Some
ABCG2 poor function Is a True Genetic finding Inferred relationship Some
ATP binding cassette subfamily G member 2 decreased function (finding) Is a True Genetic finding Inferred relationship Some

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